PAFAH1B1 and lissencephaly spectrum disorders: A wide variety of alterations in LIS1 have been described in different cohorts of classic lissencephaly patients (Saillour et al. 2009), ranging from point mutations to prominent deletions affecting encoding or regulatory regions of the gene; however, the relationship among different alterations in the LIS1 protein and the pathophysiology of the classic lissencephaly is not fully understood.